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Jejunal Atresia - Wiley Online Library

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Last Updated: 02 January 2022

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A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia

De novo heterozygous missense variants in the ACTB are implicated in causing Baraitser-- Winter cerebrofrontofacial syndrome. ACTB pathogenic variants are seldom linked with digestive malformations. We report on unusual situation of monozygotic twins presenting with proximal tiny bowel atresia and hydrops in one, and apple‐peel bowel atresia and laryngeal dysgenesis in the various other. To characterize the practical impact, the version was recreated as a pseudoheterozygote in a haploid wild‐type S. cerevisiae strain. There was an evident development flaw of the yACT1S348L/WT pseudoheterozygote contrasted to a yACT1WT/WT strain when expanded at 22 ° C yet not when grown at 30 ° C, consistent with the yACT1 S348L variant having a functional problem that is dominant over the wild‐type allele. The practical results give supporting proof that the Ser348Leu variation is likely to be a pathogenic variant, including being connected with digestive tract malformations in BWCFFS, and can show variable expressivity within monozygotic doubles.

Source link: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.62631

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions